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  • ISSN: 2373-9312
    A Novel Mutation in the L1CAM Gene: A Tale of Two Brothers
    Authors: Samuel Levi, Leina Alrabadi, Preeti Singh, Angela Flores* and Vijay Tonk
    Abstract: L1 syndrome encompasses a spectrum of conditions that includes a common clinical finding of congenital hydrocephalus and X-linked inheritance. L1CAM is the only gene implicated in this condition. Approximately 247 different mutations have been reported in 300 families.
    Proptosis is a Pediatric Dilemma
    Authors: Altonbary Y, Mansour AK, Sarhan M, Alwakeel AA, Abdelmabood S, Elmahdi HS and Darwish A
    Abstract: Childhood proptosis is quite different from that of the adult. While thyroid orbitopathy is the most common cause in adults, proptosis among children can be caused by: infection, inflammation, vascular and developmental malformation and finally malignancies.
    Latest Articles
    Research Article
    Elma Rita Albuquerque Amorim Melo*, Alberto de Barros Lima Filho, Ana Carolina Furtado Ferreira, Gustavo de Sousa Carvalho, Joemir Jabson da Conceicao Brito, Pedro Igor da Silva Farias, Alexandre Gabriel Silva Rego, and Bruno Pinheiro Falcao
    Introduction: Neonatal infections are responsible for high morbidity and mortality rates. Neonatal meningitis, meningeal infection occurring up to 28 days of life, can be confirmed by means of laboratory criteria, through the analysis of cerebrospinal fluid. In this period, it is an entity with many peculiarities, since the etiology and non-specific clinical presentation are indistinguishable from sepsis.
    Objectives: To analyze the prevalence of meningitis in patients with late neonatal sepsis in reference maternity, in the year 2016; to demonstrate the epidemiological variables present in late neonatal sepsis with meningitis and to identify the prevalence of lumbar puncture and study of the cerebrospinal fluid in these newborns.
    Methodology: This was a descriptive and retrospective study, in which patients with positive blood cultures in the neonatal period - based on a microbiology report from the institution - and met criteria for late sepsiswere selected. Data were collected from the medical records regarding the diagnosis of meningitis, epidemiological and laboratory data.
    Results: Of the 415 patients with late neonatal sepsis, 202 (48.7%) had a formal contraindication to lumbar puncture. Of the remaining 213, only 77 (36.1%) were submitted to CSF for the diagnosis of meningitis. Among the confirmed cases, 19% were identified through the culture of liquor, 23.8% by cytology/ biochemistry and 57.2% by the two methods together. The prevalence of meningitis among patients with late neonatal sepsis was 27.3% (21/77).
    Conclusion: A prevalence of meningitis cases was found in children with late neonatal sepsis like the literature, predominantly male, full term and suitable for gestational age. It is extremely worrying to see the number of patients with late sepsis confirmed by blood culture who did not undergo CSF analysis.
    Robert B. Clark* and Siena F. Davis
    Background: Millennium Development Goal 4 (MDG4) called for a two-thirds reduction in global child mortality from 1990 to 2015. Although the worldwide under-five (U5) mortality has decreased significantly, reductions in neonatal mortality have not been as dramatic. In Nepal, neonatal mortality has decreased slowly despite improvements in maternal and child health.Helping Babies Breathe® (HBB) training has been shown to decrease perinatal mortality. To assist with improving perinatal outcomes, the HBB program was initiated and disseminated in Nepal by Latter-day Saint Charities (LDSC).
    Methods: From 2012 to 2015LDSC sponsored eight Helping Babies Breathe® (HBB) training of trainer (TOT) courses in Nepal to empower master trainers. LDSC implemented a relatively unsupervised, hospital-based, voluntary resuscitation training program, independent of government in-service training, in selected areas of Nepal. Atelephone debriefing system was established to maintain contact with master trainers on a monthly basis, for up to six months after the TOT, including (1) tracking the extent and the quality of the secondary training, and (2) encouraging and assisting master trainers in carrying out their training plan. The purpose of this study is to report the dissemination of training from this unique hospital-based program utilizing the findings from the telephone debriefing system.
    Results: During the initial TOTs, 445 master trainers were trained. Of the 218 health care facilities represented at the TOTs, 216 (99.1%) participated in the telephone debriefing during at least one month (during the six-month follow-up period) following the TOT. Among participating facilities, 181 (84.2%) held an HBB training course during at least one follow-up month. A total of 124 (68.1%) facilities held only formal trainings, 44 (24.2%) held only informal trainings, and 14 (7.7%) held both formal and informal trainings. Master trainers reported training 4,464 providers, using HBB training methods, within six months of their respective TOT attendance. Factors found to be associated with number of providers formally trained included type of facility and training city.
    Conclusion: The findings of this study suggest that the hospital-based, semi-autonomous implementation model resulted in significant secondary training of resuscitation techniques. Further, telephone debriefing systems can be feasibly used to track the scale-up of HBB training in Nepal. Finally, telephone contact can provide an opportunity for monitors to remind providers to hold trainings, offer needed advice and encouragement, and assess training successes and challenges.
    Joana Silva Machry*, Suguihara Cleide, Lifschitz Karina, Ciener Daisy, and Duara Shahnaz
    Background: Despite being highly desirable, there is limited success discharging very low birth weight infants (VLBW) on mother's own milk.
    Research aim: To explore interventions to improve lactation success based upon recommendations of lactating mothers of VLBW infants.
    Methods: Prospective, two-phase project in an inner city, level IV NICU. Mothers of inborn VLBW who agreed to express breast milk and met eligibility criteria were followed from infants' birth to discharge. The first cohort receiving STANDARD breastfeeding support (n=50) was compared to a subsequent cohort receiving INTERVENTION (phone calls and peer group support sessions, n=50).
    Results: Overall, lactation success at infant's discharge changed from 56% (STANDARD cohort, n=28) to 70% (INTERVENTION cohort n= 35); p=0.15. Lactation was significantly higher among mothers who were fully compliant to the intervention (INT COMPLIANT) as compared to the STANDARD cohort (n=20 of 24 vs. 28 of 50; p=0.003). In the STANDARD cohort, lactation success was significantly higher among mothers with higher than high school education as compared to mothers with lower or equal than high school education (n= 16 of 21, vs. n= 12 of 29; p=0.014). With intense intervention, rates of lactation among less educated mothers improved, attenuating the difference (n=20 of 24, vs. n=14 of 25; p=0.06).
    Conclusion: For an ethnically diverse group of minority women, actually receiving intensified lactation specialists contact and peer support, the rates of lactation success at their VLBW infant's discharge improved. The positive effect impacted lactation among mothers with lower educational attainment.
    Case Report
    Fatima Aly* and Lynnette J. Mazur
    Primary care pediatricians see a wide spectrum of children with developmental delay with and without dysmorphic features. Searching for a genetic cause can be challenging. We describe a 24 month old child with global developmental delay, congenital nystagmus, deafness, and club feet. Because chromosomal microarray analysis (CMA) provides a higher diagnostic yield (15-20%) than conventional G-band karyotype analysis (3%), we performed CMA and diagnosed our patient with a chromosome 18 deletion, DeGrouchy Syndrome.
    Nashaat Elsayed Farara* and Ahmed Shawky Mohamed
    We diagnosed a 5 years old boy as a case of abdominal tuberculosis which is a rare presentation for tuberculosis in children. We are sharing this case review aiming to early diagnosis and management of those cases to decrease morbidity and mortality. Our patient was followed up over 12 months till completing his treatment and full recovery.
    Research Article
    Hamufare Mugauri, Owen Mugurungi, Sithabiso Dube, Tapuwa Magure, Tsitsi Juru*, Notion Tafara Gombe, Gerald Shambira, and MufutaTshimanga
    Background: Neonatal sepsis is among the leading causes of morbidity and mortality among term and preterm infants particularly in Neonatal Intensive Care Units (NICU). Pathogens implicated are mostly hospital-acquired. Parirenyatwa NICU experienced a surge in neonatal sepsis incidences, recording 108 cases and 41 deaths in five months. We determined the source and the factors that facilitated the infection.
    Methods: A cohort study of neonates admitted from 1 June to 31 October 2016 using secondary data, key informant interviews and checklists were conducted. Environmental and hand swabs were collected for laboratory analyses. Neonatal sepsis was defined as a clinical syndrome resultant from systemic infection. Epi Info was used to compute proportions, relative risks, attributable risks at 5% significance level.
    Results: All 641 clinical records of admitted neonates were reviewed. One hundred and two (94%) of neonate sepsis patients were hospital-acquired. Suctioning (RR=9.6; 95%CI, 5.4-17.1) increased the risk for neonatal sepsis and 80.6% neonatal sepsis cases were attributable to mechanical ventilation (95%CI, 71.5-89.6). Klebsiella and Pseudomonas Species were isolated from ward equipment and sinks. Hand swabs yielded Pseudomonas and Staphylococci Species. Among neonatal sepsis patients, 78.2% (n=101) yielded positive Klebsiella cultures [RR 2.0; (95%CI 1.5-2.8), AR% 48.4; (95%CI 33.4-63.4)]. The excess risk of death from neonatal sepsis was 34.2 per 100.
    Conclusion: Outbreak was driven by Klebsiella induced, hospital-acquired sepsis, from a common-continuous source and spread through cross infection. Suspending mechanical ventilation and thorough disinfection controlled the outbreak. Compliance with infection control protocol and surveillance of neonatal infections were considered for prevention of similar outbreaks.
    Klaus Greier*, Clemens Drenowatz, Gerhard Ruedl, Klaudia Kroell, Carla Lackner, Werner Kirschner, and Veronika Feurstein-Zerlauth
    Objective: The development of motor competence during childhood has important implications for future health and well-being. The present study examined the association of overweight and obesity with motor competence in 6- to 8-year-old school children.
    Methods: In a cross-sectional study 18 elementary schools in the federal state of Tyrol, Austria were randomly selected for participation. Motor competence was assessed in 857 (422 boys; 435 girls), children between March and December 2017 using the German Motor Test. Body weight and height were measured following standard procedures with children in sports clothes and being barefoot. Participants were categorized into four weight groups based on the German BMI reference system: group I (anorexic/underweight), group II (normal weight), group III (overweight) and group IV (obese). Differences across weight categories (underweight, normal weight, overweight, obese) were determined via ANOVA, using Bonferroni adjustment being for post-hoc analyses.
    Results: Out of the 857 school children 9.0% were overweight and 6.1% were obese. The prevalence of overweight and obesity increased from 5.7% in the 6-year old participants to 10.6% in the 8-year-old participants (p= 0.004). Motor competence of children with normal body weight or underweight was significantly higher than that of their peers with overweight or obesity (p< 0.001). Further, children with obesity displayed significantly lower motor competence scores than children with overweight (p< 0.001).
    Conclusion: Motor competence is an important contributor to a healthy development in children. Comprehensive, preventive efforts, therefore, should emphasize motor development, particularly in elementary school, when targeting an active lifestyle and healthy body weight.
    Case Report
    Marilia Barbosa de Matos, Angelica Luciana Nau, Adriana Banzzatto Ortega, Tiago S. Bara, and Mara L. Cordeiro*
    Introduction: Here we report a rare pediatric case of stiff person syndrome (SPS), a rare neurological disorder characterized by persistent muscular rigidity and spasm affecting primarily axial muscles.
    Patient description: An 11 year-old boy presented with a 1-year history of axial muscle pain associated with sternocleidomastoid muscle contractions that progressed to bilateral arm muscle contractions. His medical history included febrile seizures and a learning disability. Physical examination revealed generalized bilateral rigidity of the arms and lateral neck. Laboratory test results were normal. Electroneuromyography showed unremitting paravertebral muscular contraction. Clonazepam treatment improved the patients functional status and diminished his pain.
    Conclusion: Although SPS is rare, pediatricians should be aware of its diagnostic criteria and the potential to treat juvenile SPS with benzodiazepines.
    Reveiw Article
    Clemens Drenowatz and Klaus Greier*
    Despite considerable efforts, obesity rates in youth have been rising or plateaued at a high level throughout the world. Global data indicate that 1 in 10 school-aged children are overweight or obese. Due to the increased risks for physical and psychological problems along with an estimated 10% of total health care costs attributed to weight-related health problems, a high prevalence of overweight and obesity has been identified as a major threat to future public health. Current intervention strategies addressing this problem, however, have been of limited success and alternative strategies are warranted. Given the importance of physical activity (PA) along with healthy nutrition in long term weight management, a stronger emphasis on the development of motor competence may be a valuable strategy in the promotion of an active lifestyle and healthy body weight in youth. Even though available data indicates a reciprocal, synergistic relationship between motor competence, PA and body weight, there appears to be a shift in strength and directionality over time. Particularly during late childhood and adolescence motor competence appears to be a crucial determinant of subsequent PA and healthy body weight, while diverse movement experiences form the foundation for motor competence during early childhood. By discussing the empirical evidence on the longitudinal associations of motor competence, PA and body weight along with major theoretical models this narrative review emphasizes the potential contribution of a focus on motor competence in the promotion of an active lifestyle and healthy body weight in youth.
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